Predicted mutation
evidence seq id position mutation freq annotation gene description
RA NC_000913_3_hsa_tpiA 2,893,414 A→T 8.2% K253I (AAA→ATA)  ygcN → putative oxidoreductase

Read alignment evidence...
  seq id position ref new freq score (cons/poly) reads annotation genes product
*NC_000913_3_hsa_tpiA2,893,4140AT 8.2% 134.7 / 6.6 49K253I (AAA→ATA) ygcNputative oxidoreductase
Reads supporting (aligned to +/- strand):  ref base A (24/21);  new base T (2/2);  total (26/23)
Fisher's exact test for biased strand distribution p-value = 1.00e+00
Kolmogorov-Smirnov test that lower quality scores support variant p-value = 8.61e-02

TTGCTGTTCAGCGGCAGGATCTGTGATGACTTACCCGGCGGCGCATTTCTTTATACTAATCAACAAACGCTCTCGTTAGGGATTGTTTGCCCGCTCTCTTCCCTTACGCAAAGTCGTGTTCCGGCAAGCGAGCTGCTGACTCGCTTTAAAGCGCATCCGGCAGTGCGCCCGCTTATCAAAAACACGGAATCACTGGAGTATGGTGCGCATCTGGTGCCAGAAGGTGGCTTGCACAGTATGCCGGTGCAATACGCCGGTAACGGCTGGCTGCTGGTGGGCGATGCGTTGC  >  NC_000913_3_hsa_tpiA/2893266‑2893554
                                                                                                                                                    |                                                                                                                                            
tggCTGTTCAGCGGCAGGATCTGTGATGACTTACCCGGCGGCGCATTTCTTTATACTAATCAACAAACGCTCTCGGTAGGGATTGTTTGCCCGCTCTCTTCCCTTACGCAAAGTCGTGTTCCGGCAAGCGAGCTGCTGACTCGCTTTaa                                                                                                                                              <  2:160915/147‑1 (MQ=255)
 tGCTGTTCAGGGGTAGGATCTGTGATGACTTACCCGGCGGCGCATTTCTTTATACTAATCAACAAACGCTCTCGTTAGGGATTGTTTGCCCGCTCTCTTCCCTTACGCAAAGTCGTGTTCCGGCAAGCGAGCTGCTGACTCGCTTTaaa                                                                                                                                             <  2:15205/149‑1 (MQ=255)
         aGCGGCAGGATCTGTTATGATTTATCCGGTGGCGTATTTCTTTATACTAATCAACAAACGCTCTCGTTAGGGATTGTTTGCCCGCTCTCTTCCCTTACGCAAAGTCGTGTTCCGGCAAGCGAGCTGCTGACTCGCTTTAAAGCGCATcc                                                                                                                                     <  1:233384/149‑1 (MQ=255)
          gCGGCAGGATCTGTGATGACTTACCCGGCGGCGCATTTCTTTATACTAATCAACAAACGCTCTCGTTAGGGATTGTTTGCCCGCTCTCTTCCCTTAAGCAAAAGCTCGTTCCGGCAAGCGAGCTGCTGACTCGCTTTAAAGCGCATCCg                                                                                                                                    >  1:346751/1‑149 (MQ=255)
             gCAGGATCTGTGATGACTTACCCGGCGGCGCATTTCTTTATACTAATCAACAAACGCTCTCGATGGGGATTGTTTGCCCGCTCTCTTCCCTTACGCAAAGTCGTGTTCCGGCAAGCGAGCTGCTGACTCTCTTTAAAGCGCATCCGGCa                                                                                                                                 >  1:687462/1‑149 (MQ=255)
             gCAGGATCTGTGATGACTTACCCGGCACCGCGCTCGGTTATACTAATCAACAAACGCTCTCGTTAGGGATTGTTTGCCCGCTCTCTTCCCTTACGCAAAGTCGTGTTCCGGCAAGCGAGCTCCTGACTCGCTTTCAAGCGCATCCGGcc                                                                                                                                 >  2:703850/1‑148 (MQ=255)
                       tgatgaCTTACCCGGCGGCGCATTTCTTTATACTAATCAACAAACGCTCTCGTTAGGGTTTGCTTGCCCGCACACTTCCCTTACGCAAATTCGTGTTCCGGCAAGCGAGCTGCTGACGCGCTTTAAAGCGCATCCGGCAGTGCGCCCGc                                                                                                                       >  1:137482/1‑149 (MQ=255)
                                 cccGGCGGCGCATTTCTTTATACTAATCAACAAACGCTCTCGTTAGGGATTGTTTGCCCGCTCTCTTCCCTTACGCAAAGTCGTGTTCCGTCAAGTGAGCTGCTGACTCGCTTTAAAGCGCATCCGGCAGTGCGCCCGCTTATCaaaaa                                                                                                             <  2:550065/149‑1 (MQ=255)
                                             tttCTTTATACTAATCAACAAACGCTCTCGTTAGGGATTGTTTGCCCGCTCTCTTCCCTTACGCAAAGTCGTGTTCCGGCAAGCGAGCTGCTGACTCGCTTTAAAGCGCATCCGGCAGTGCGCCCGCTTATCAAAAACACGGAATCACt                                                                                                 >  2:638015/1‑149 (MQ=255)
                                              ttCTTTATACTAATCAACAAACGCTCTCGTTAGGGATTGTTGGCCCGCTCTCTTCCCTTACGCAAAGTCGTGTTCCGGCAAGCGAGCTGCTGACTCGCTTTAAAGCGCATCCGGCAGTGCGCCCGCTTATCAAAAACACGGAATCACTg                                                                                                <  1:71006/149‑1 (MQ=255)
                                                 ttgataCTAATCAACAAACGCTCTCGTTAGGGATTGTTTGCCCGCTCTCTTCCCTTACGCAAAGTCGTGTTCCGGCAAGCGAGCTGCTGACTCGCTTTAAAGCGCATCCGGCAGTGCGCCCGCTTATCAAAAACACGGAATCACTggcg                                                                                             >  2:286380/4‑147 (MQ=255)
                                                     taCTAATCAACAAACGCTCTCGTTAGGGATTGTTTGCCCGCTCTCTTCCCTTACGCAAAGTCGTGTTCCGGCAAGCGAGCTGCTGACTCGCTTTAAAGCGCATCCGGCAGTGCGCCCGCTTATCAAAAACACGGAATCACTGGAGTATg                                                                                         >  1:488296/1‑149 (MQ=255)
                                                      aCTAATCAACAAACGCTCTCGTTAGGGATTGTTTGCCCGCTCTCTTCCCTTACGCAAAGTCGTGTTCCGGCAAGCGAGCTGCTGACTCGCTTTAAAGCGCATCCGGCAGTGCGCCCGCTTATCAAAAACACGGAATCACTGGAGTATgg                                                                                        >  1:709216/1‑149 (MQ=255)
                                                             aacaaACGCTCTCGTTAGGGATTGTTTGCCCGCTCTCTTCCCTTACGCAAAGTCGTGTTCCGGCAAGCGAGCTGCTGACTCGCTTTAAAGCGCATCCGGCAGTGCGCCCGCTTATCAAAAACACGGAATCACTGGAGTATGGGGCGCAt                                                                                 >  1:491300/1‑149 (MQ=255)
                                                                aaaCGCTCTCGTTAGGGATTGTTTGCCCGCTCTCTTCCCTTACGCAAAGTCGTGTTCCGGCAAGCGAGCTGCTGACTCGCTTTAAAGCGCATCCGGCAGTGCGCCCGCTTATCAAAAACACGGAATCACTGGAGTATGGt                                                                                       >  1:327237/1‑140 (MQ=255)
                                                                aaaCGCTCTCGTTAGGGATTGTTTGCCCGCTCTCTTCCCTTACGCAAAGTCGTGTTCCGGCAAGCGAGCTGCTGACTCGCTTTAAAGCGCATCCGGCAGTGCGCCCGCTTATCAAAAACACGGAATCACTGGAGTATGGt                                                                                       <  2:327237/140‑1 (MQ=255)
                                                                       ctcGTTAGGGATTGTTTGCCCGCTCTCTTCCCTTACGCAAAGTCGTGTTCCGGCAAGCGAGCTGCTGACTCGCTTTAAAGCGCATCCGGCAGTGCGCCCGCTTATCAAAAACACGGAATCACTGGAGTATGGTGCGCATCTGGTGCCAg                                                                       >  1:368749/1‑149 (MQ=255)
                                                                          gtgaGGGAAGGTTTGCGCGCGCTGTTCCCTTACGCAAAGTCGTGTTCCGACAAGAGAGCTGATGACTATCTTTAAAGCGCATCAGGCAGTGCGTCCGCTTATCAAAAACACGGAAGCACTGGAGGATGGTGCGCATCTGGTGCCAGAAg                                                                    <  2:220180/146‑1 (MQ=255)
                                                                          gTTAGGGGTTGTTTGCCCACCTACTTCCCTTACGCAAAGCTGTGTTCCGGCAACCGAGCTGCTGACTCGCTTTAAAGCGCATCCGGCAGTGCGCCCGCTTATCAAAAACACGGAATCACTGGAGTATGGTGCGCATCTGGTGCCAGAAg                                                                    <  2:108301/149‑1 (MQ=255)
                                                                             aGGGATTGTTTGCCCGCTCTCTTCCCTTACGCAAAGTCGTGTTCCGGCAAGCGAGCTGCTGACTCGCTTTAAAGCGCATCCGGCAGTGCGCCCGCTTATCAAAAACCCGGAATCACTGGAGTATGGTGCGCATCTGGTGCCAGAAGGTg                                                                 >  2:167264/1‑149 (MQ=255)
                                                                             aGGGATTATTTGCCCGCTCGCTTCCCTTACGCAAAGTCGTGTTCCGGCAAGCGAGCTGCTGACTCGCTTTAAAGCGCATCCGGCAGTGCGCCCGCTTATCAAAAACACGGAATCACTGGAGTATGGTGCGCATCTGGTGCCAGAAGGTg                                                                 >  2:561490/1‑149 (MQ=255)
                                                                               ggATTGTTTGCCCGTTCTCTTCCCTTACGCAAAGTCGTGTCCCCGCAAGCGAGCTGCTGACTCGCTTTAAAGCGCATCCGGTAGTGCGCCCGCTTATCAAAAACACGGAATCACTGGAGTATGGTGCGCATCTGGTGCCAGAAGGTGGc                                                               <  1:380934/149‑1 (MQ=255)
                                                                               ggATTGTTTGCCCGCTCTCTTCCCTTACGCAAAGTCGTGTTCCGGCAAGCGAGCTGCTGACTCGCTTTAAAGCGCATCCGGCAGTGCGCCCGCTTATCAAAAACACGGAATCACTGGAGTATGGTGCGCATCTGGTGCCAGAAGGTGGc                                                               <  1:561490/149‑1 (MQ=255)
                                                                               ggATTGTTTGCCCGCTCTCTTCCCTTACGCAAAGTAGCTCTCCGGCTAGCGAGCTGCTGACTCGCTTTAAAGCGCATCCGGCAGTGCGCCCGCTTATCAAAAACACGGAATCACTGGAGTATGGTGCGCATCTGGTGCCAGAAGGTGGc                                                               <  1:380059/149‑1 (MQ=255)
                                                                                  ttGTTTGCCCGCTCTCTTCCCTTACGCAAAGTCGTGTTCCGGCAAGCGAGCTGCTGACTCGCTTTAAAGCGCATCCGGCAGTGCGCCCGCTTATCAAAAACACGGAATCACTGGAGTATGGTGCGCATCTGGTGCCAGAAGGTGGCTTg                                                            <  2:705852/149‑1 (MQ=255)
                                                                                  ttGTTTGCCCGCTCTCTTCCCTTACGCAAAGTCGTGTTCCGGCAAGCGAGCTGCTGACTCGCTTTAAAGCGCATCCGGCAGTGCGCCCGCTTATCAAAAACACGGAATCACTGGAGTATGGTGCGCATCTGGTGCCAGAAGGTGGCTTg                                                            <  1:704693/149‑1 (MQ=255)
                                                                                    gTTTGCCCGCTCTCTTCCCTTACGCAAAGTCGTGTTCCGGCAAGCGAGCTGCTGACTCGCTTTAAAGCGCATCCGGCAGTGCGCCCGCTTATCAAAAACACGGAATCACTGGAGTATGGTGCGCATCTGGTGCCAGAAGGTGGCTTGca                                                          <  1:497421/149‑1 (MQ=255)
                                                                                     tttGCCCGCTCTCTTCCCTTACGCAAAGTCGTGTTCCGGCAAGCGAGCTGCTGACTCGCTTTAAAGCGCATCCGGCAGTGCGCCCGCTTATCAAAAACACGGAATCACTGGAGTATGGTGCGCATCTGGTGCCAGAAGGTGGCTTGcac                                                         >  2:264086/1‑149 (MQ=255)
                                                                                      ttGCCCGCTCTTTTCCCTTACGCAAAGTCGTTTTCCGGCAAGCGAGCTGCTGACTCGCTTTAAAGCGCATCCGGCAGTGCGCCCGCTTATCAAAAACACGGAATCACTGGAGTATGGTGCGCATCTGGTGCCAGAAGGTGGCTTGcaca                                                        <  1:219654/149‑1 (MQ=255)
                                                                                         cccGCTCTCTTCCCTTACGCAAAGTCGTGTTCCGGCAAGCGAGCTGCTGACTCGCTTTAAAGCGCATCCGGCAGTGCGCCCGCTTATCAAAAACACGGAATCACTGGAGTATGGTGCGCATCTGGTGCCAGAAGGTGGCTTGCACAGTa                                                     >  1:309111/1‑149 (MQ=255)
                                                                                                ttctCCCTTACGCAAAGTCGTGTTCCGGCAAGCGAGCTGCTGACTCTGTTTAAAGCGCATCCGGCAGTGCGCCCGCTTATCAAAAACACGGAATCACTGGAGTATGGTGCGCATCTGGTGCCAGAAGGTGGCTTGCACAGTATGCCGGt                                              <  1:115647/146‑1 (MQ=255)
                                                                                                tctTCCCTTACGCAAAGTCGTGTTCCGGCAAGCGAGCTGCTGACTCGCTTTATAGCGCATCCGGCAGTGCGCCCGCtt                                                                                                                     <  2:532754/78‑1 (MQ=255)
                                                                                                tctTCCCTTACGCAAAGTCGTGTTCCGGCAAGCGAGCTGCTGACTCGCTTTATAGCGCATCCGGCAGTGCGCCCGCtt                                                                                                                     <  2:532812/78‑1 (MQ=255)
                                                                                                tctTCCCTTACGCAAAGTCGTGTTCCGGCAAGCGAGCTGCTGACTCGCTTTATAGCGCATCCGGCAGTGCGCCCGCtt                                                                                                                     >  1:532812/1‑78 (MQ=255)
                                                                                                tctTCCCTTACGCAAAGTCGTGTTCCGGCAAGCGAGCTGCTGACTCGCTTTATAGCGCATCCGGCAGTGCGCCCGCtt                                                                                                                     >  1:532754/1‑78 (MQ=255)
                                                                                                 ctTCCCTTACGCAAAGTCGTGTTCCGGCAAGCGAGCTGCTGACTCGCTTTAAAGCGCATCCGGCAGTGCGCCCGCTTATCAAAAACACGGAATCACTGAAGTATGGTGCGCATCTGGTGCCAGAAGGTGGCTTGCACAGTATGCCGGTg                                             >  1:257582/1‑149 (MQ=255)
                                                                                                          cGCAAAGTCGTGTTCCGGCAAGCGAGCTGCTGACTCGCTTTAAAGCGCATCCGGCAGTGCGCCCGCTTATCAAAAACACGGAATCACt                                                                                                 >  2:199035/1‑88 (MQ=255)
                                                                                                          cGCAAAGTCGTGTTCCGGCAAGCGAGCTGCTGACTCGCTTTAAAGCGCATCCGGCAGTGCGCCCGCTTATCAAAAACACGGAATCACt                                                                                                 <  1:199035/88‑1 (MQ=255)
                                                                                                           ggaaaGTCGTGGTCCGGAAAGCGAGCTGCTGACTCGCTTTAAAGCGCATCCGGCAGTGCGCCCGCTTATCAAAAACACGGAATCACTGGAGTATGGTGCGCATCTGGTGCCAGAAGGTGGCTTGCACAGTATGCCGGTGCAATACGCCg                                   <  1:65327/147‑1 (MQ=255)
                                                                                                             aaaGTCGTGTTCCGGCAAGCGAGCTGCTGACTCGCTTTAAAGCGCATCCGGCAGAGCGCCCGCTTATCAAAAACACGGAATCACTGGAGTATGGTGCGCATCTGGTGCCAGAAGGTGGCTTGCACAGTATGCCGGTGCAATACGCCGGt                                 >  1:570740/1‑149 (MQ=255)
                                                                                                                    tgtgCCGGCAAGCGAGCGGCTGACTCGCTTTAAAGCGCATCCGGCAGTGCGCCCGCTTATCAAAAACACGGAATCACTGGAGTATGGTGCGCATCTGTTGCCAGAAGGTGGCTTGCACAGTATGCCGGTGCAATACGCCGGTAACggct                          <  1:323670/149‑1 (MQ=255)
                                                                                                                      ttCCGGCAAGCGAGCTGCTGACTCGCTTTAAAGCGCATCCGGCAGTGCGCCCGCTTATCAAAAACACGGAATCACTGGAGTATGGTGCGCATCTGGTGCCAGAAGGt                                                                  >  2:359480/1‑107 (MQ=255)
                                                                                                                      ttCCGGCAAGCGAGCTGCTGACTCGCTTTAAAGCGCATCCGGCAGTGCGCCCGCTTATCAAAAACACGGAATCACTGGAGTATGGTGCGCATCTGGTGCCAGAAGGt                                                                  <  1:359480/107‑1 (MQ=255)
                                                                                                                        ccGGCAAGCGAGCTGCTGACTCGCTTTAAAGCGCCTCCGGCAGTGCGCCCGCTTATAAAAAACACGGAATCACTGGAGTATGGTGCGCATCTGGTGCCAGAAAGTGGCTTGCACAGTATGCCGGTGCAATACGCCGGTGACggatggct                      >  1:43356/1‑149 (MQ=255)
                                                                                                                         cGGCAAGCGAGCTGCTGACTCGCTTTAAAGCGCATCCGGCAGTGCGCCCGCTTATCAAAAACACGGAATCACTGGAGTATGGTGCGCATCTGGTGCCAGAAGGTGGCTTGCACAGTATGCCGGTGCAATACGCCGGTAACggctggcgg                     >  1:607337/1‑147 (MQ=255)
                                                                                                                          ggCAAGCGAGCTGCTGACTCGCTTTAAAGCGCATCCGGCAGTGCGCCCGCTTATCAAAAACACGGAATCACTGGAGTATGGTCCGCAATGGGTGCTAGAAGGTGGCTTGCACAGTATGCCGGTGCACTACGCCGGTAACGgctggctgg                    >  1:167819/1‑148 (MQ=255)
                                                                                                                           gCAAGCGAGCTGCTGACTCGCTTTAAAGCGCATCCGGCAGTGCGCCCGCTTATCAAAAACACGGAATCACTGGAGTATGGTGCGCATCTGGTGCCAGAAGGTGGCTTGCACAGTATGCCGGTGCAATACGCCGGTAACGGCTGgctgct                   <  2:243467/149‑1 (MQ=255)
                                                                                                                            cAAGCGAGCTGCTGACTCGCTTTAAAGCGCATCCGGCAGTGCGCCCGCTTATCAAAAACACGGAATCACTGGAGTATGGTGCGCATCTGGTGCCAGAAGGTGGCTTGCACAGTATGCCGGTGCAATACGCCGGTAACGGCTGGctgctg                  <  2:504364/149‑1 (MQ=255)
                                                                                                                                     tgctgACTCGCTTTAAAGCGCATCCGGCAGAGCGCCCGCTTATCAAAAACACGGAATCACTGGAGTATGGTTCGCATCTGGTGCCAGAAGGTGGCTTGCACAGTATGCCGGTGCAATACGCCGGTAACGGCTGGCTGCTGGTGGGCGAt         >  2:720525/1‑149 (MQ=255)
                                                                                                                                         gACTTGCTTTAAAGCGCATCCGGCAGTGCGCCCGCTTATCAAAAACACGGCACCACTGGAGTATGGTGCGCATCTGGTGCCAGAAGGTGGCTTGCACAGTATGCCGGTGCAATACGCCGGTAACGGCTGGCTGCTGGTGGGCGATGCGt     <  1:11297/149‑1 (MQ=255)
                                                                                                                                            tCGCTTTAAAGCGCATCCGGCAGTGCGCCCGCTTATCAAAAACACGGAATCACTGGAGTATGGTGCGCATCTGGTGCCAGAAGGTGGCTTGCACAGTATGCCGGTGCAATACGCCGGTAACGCCTGGCTGCTGGTGGGCGATGCGtttc  >  2:387907/1‑147 (MQ=255)
                                                                                                                                                    |                                                                                                                                            
TTGCTGTTCAGCGGCAGGATCTGTGATGACTTACCCGGCGGCGCATTTCTTTATACTAATCAACAAACGCTCTCGTTAGGGATTGTTTGCCCGCTCTCTTCCCTTACGCAAAGTCGTGTTCCGGCAAGCGAGCTGCTGACTCGCTTTAAAGCGCATCCGGCAGTGCGCCCGCTTATCAAAAACACGGAATCACTGGAGTATGGTGCGCATCTGGTGCCAGAAGGTGGCTTGCACAGTATGCCGGTGCAATACGCCGGTAACGGCTGGCTGCTGGTGGGCGATGCGTTGC  >  NC_000913_3_hsa_tpiA/2893266‑2893554

Alignment Legend
Aligned base mismatch/match (shaded by quality score): ATCG/ATCG < 3 ≤ ATCG/ATCG < 12 ≤ ATCG/ATCG < 13 ≤ ATCG/ATCG < 32 ≤ ATCG/ATCG < 41 ≤ ATCG/ATCG
Unaligned base: atcg    Masked matching base: atcg    Alignment gap: ‑    Deleted base: ‑